Variant report

Variant	rs56298335
Chromosome Location	chr2:40690456-40690457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11679340	0.81[EUR][1000 genomes]
rs11679585	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11688289	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55944949	0.86[EUR][1000 genomes]
rs55957030	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55983152	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62149448	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6723559	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6758149	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6758867	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7609367	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv2700	chr2:40667461-40712805	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40685200-40697000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40685800-40694200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:40687000-40691800	Weak transcription	Left Ventricle	heart
4	chr2:40688600-40698200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:40689600-40690600	Enhancers	Right Ventricle	heart
6	chr2:40690000-40690600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:40690200-40690600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:40690200-40693600	Genic enhancers	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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